Stiff person spectrum disorders: An illustrative case series of their phenotypic and antibody diversity
| Autor: | Cristina Costa, Amélia Nogueira Pinto, Simão Cruz, Francisco Bernardo, André Rêgo, Leonor Rebordão, João Passos, Mariana Santos, Sara Machado |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Male
Myoclonus 0301 basic medicine Encephalomyelitis Laryngeal stridor Autoantigens Fatal Outcome Receptors Glycine 0302 clinical medicine Ptosis Antibody Specificity Tremor Immunology and Allergy Aged 80 and over Middle Aged Phenotype medicine.anatomical_structure Neurology Immunotherapy medicine.symptom Immunosuppressive Agents Stiff person syndrome Antibody Diversity Diarrhea medicine.medical_specialty Immunology Nerve Tissue Proteins Neuroimaging Stiff-Person Syndrome 03 medical and health sciences Seizures Diplopia medicine Humans Stiff-person syndrome Gait Disorders Neurologic Aged Autoantibodies business.industry equipment and supplies medicine.disease Dermatology Muscle Rigidity 030104 developmental biology Primary treatment Neurology (clinical) Eyelid Cognition Disorders business 030217 neurology & neurosurgery Transcription Factors |
| Zdroj: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação instacron:RCAAP |
| Popis: | Stiff person spectrum disorders (SPSD) are a broad group of immune-mediated disorders. Clinical presentations include classical stiff person syndrome (SPS), focal SPS, and progressive encephalomyelitis with rigidity and myoclonus (PERM). The most frequently associated antibodies are anti-GAD65, anti-GlyR, anti-amphiphysin, and anti-DPPX. Immunotherapy is the primary treatment modality. We present an illustrative case series of three patients: anti-GlyR antibody-mediated PERM presenting as rapidly progressive dementia; anti-amphiphysin antibody-mediated SPS; and SPS presentation with anti-Zic4 antibodies, spasmodic laryngeal stridor and fluctuating eyelid ptosis. Clinical characteristics, CSF findings, neurophysiological features, adequate immunological assays and a high suspicion index are essential for prompt diagnosis and management. |
| Databáze: | OpenAIRE |
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